title: No evidence for linkage between the hereditary angiooedema clinical phenotype and the BDKR1, BDKR2, ACE or MBL2 gene.
abstract: Hereditary angiooedema (HAE) is a life-threatening disease with poor clinical phenotype correlation with its causal mutation in the C1 inhibitor (SERPING1) gene. It is characterized by substantial symptom variability even in affected members of the same family. Therefore, it is likely that genetic factors outside the SERPING1 gene have an influence on disease manifestation. In this study, functional polymorphisms in genes with a possible disease-modifying effect, B1 and B2 bradykinin receptors (BDKR1, BDKR2), angiotensin-converting enzyme (ACE) and mannose-binding lectin (MBL2), were analysed in 36 unrelated HAE patients. The same analysis was carried out in 69 HAE patients regardless of their familial relationship. No significant influence of the studied polymorphisms in the BDKR1, BDKR2, ACE and MBL2 genes on overall disease severity, localization and severity of particular attacks, frequency of oedema episodes or age of disease onset was detected in either group of patients. Other genetic and/or environmental factors should be considered to be responsible for HAE clinical variability in Caucasians.
authors.affiliation: Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic. tomas.freiberger@cktch.cz
authors.forename: T
authors.initials: T
authors.lastname: Freiberger
authors.forename: H
authors.initials: H
authors.lastname: Grombiříková
authors.forename: B
authors.initials: B
authors.lastname: Ravčuková
authors.forename: J
authors.initials: J
authors.lastname: Jarkovský
authors.forename: P
authors.initials: P
authors.lastname: Kuklínek
authors.forename: O
authors.initials: O
authors.lastname: Kryštůfková
authors.forename: J
authors.initials: J
authors.lastname: Hanzlíková
authors.forename: E
authors.initials: E
authors.lastname: Daňková
authors.forename: O
authors.initials: O
authors.lastname: Kopecký
authors.forename: R
authors.initials: R
authors.lastname: Zachová
authors.forename: M
authors.initials: M
authors.lastname: Lahodná
authors.forename: M
authors.initials: M
authors.lastname: Vašáková
authors.forename: L
authors.initials: L
authors.lastname: Grodecká
authors.forename: J
authors.initials: J
authors.lastname: Litzman
mesh_terms: D000293:Adolescent; D000328:Adult; D054179:Angioedemas, Hereditary / Q000235:genetics / Q000503:physiopathology*; D018153:Czech Republic; D005260:Female; D006801:Humans; D008297:Male; D037601:Mannose-Binding Lectin / Q000235:genetics*; D008875:Middle Aged; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D010641:Phenotype; D043783:Receptor, Bradykinin B1 / Q000235:genetics*; D043782:Receptor, Bradykinin B2 / Q000235:genetics*; D055815:Young Adult
chemical_list: C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin; D043783:Receptor, Bradykinin B1; D043782:Receptor, Bradykinin B2; C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A